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Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder that presents unique challenges for anesthetic management due to its multisystemic manifestations. This report outlines the anesthetic considerations for MDPL patients based on our case experience. Case presentation: A 15-year-old male with MDPL syndrome underwent testicular extraction under general anesthesia. Insertion of a peripheral venous catheter was challenging due to scleroderma-like skin. Although the facial features of MDPL syndrome suggested a difficult airway, intubation with a McGrath™ Mac video laryngoscope was successful. Despite MDPL syndrome's association with hypertriglyceridemia due to lipodystrophy, this patient's triglyceride levels were normal. Thiamylal and sevoflurane were used without issues such as delayed emergence from anesthesia. Conclusions: MDPL syndrome requires careful preoperative assessment and tailored anesthetic management due to potential airway challenges arising from its distinctive facial features and the possibility of altered anesthetic pharmacokinetics associated with lipodystrophy. [ABSTRACT FROM AUTHOR]

To assess deafness in term infant with birth asphyxia by otoacoustic emission and brain stem evoked response audiometry. A Prospective observational study was done at Tertiary care government hospital from 15/02/2021 to 15/10/2022.Total 130 patients were included in the study by consecutive sampling method. All the patients fulfilling the inclusion criteria during the study period were included. After explaining the aims, objectives and methods of study, written informed consent was obtained from the parents to undergo Otoacoustic Emission (OAE) and Brain Stem Evoked Response Audiometry Test (BERA). Data was entered in case record form. Collected data was analysed by appropriate statistical methods. Hearing impairment was present in eight (6.15%) asphyxiated term infants. A mild degree of hearing loss was seen in three (37.5%), a moderate degree of hearing loss was seen in four (50%), severe degree of hearing loss was seen in one (12.5%) asphyxiated term infant. In asphyxiated term infants, no significant difference in hearing loss was seen with respect to gender, Obstetrics history, and type of delivery. Significant difference in hearing loss was seen in antenatal Diabetes mellitus, hypertension, family history of SNHL and APGAR Score less than 6. Severe degree of hearing loss was seen in prolonged labour and HTN mother. Significant difference in hearing loss was seen in antenatal Diabetes mellitus, hypertension, family history of SNHL and APGAR Score less than 4 and 6 in one and five minutes respectively. Severe degree of hearing loss was seen in prolonged labour and HTN mother. [ABSTRACT FROM AUTHOR]

Job burnout can lead to serious mental health problems and damage physical health, so it is meaningful to explore the predictors of job burnout. The purpose of this study was to explore the relationship between resilience, self-regulation and job burnout of parents of deaf and hard-of-hearing children in mainland China. A questionnaire on resilience, self-regulation and job burnout was conducted for 416 parents of children with deaf and hard of hearing, and the data were analyzed using mplus. The results show that resilience can reduce job burnout, and self-regulation regulates the relationship between resilience and job burnout. This study focuses on the relationship between resilience, self-regulation and job burnout of parents of deaf and hard-of-hearing children in mainland China, and expands the research field of resilience and job burnout. The limitation and influence of this study are also discussed. [ABSTRACT FROM AUTHOR]

Hearing loss affects around 5% of the global population. Two preliminary studies have described genetic variants in sporadic individuals with hearing loss from Pakistan. Here we extend these studies to determine the spectrum of variants in a cohort of individuals with no previous history of hearing loss. Individuals with hearing loss born to consanguineous couples were identified from special schools. Audiograms were assessed. DNA from participants negative for GJB2 pathogenic variants was subjected to exome sequencing. Data were filtered to include variants with frequencies < 0.01 in the public databases. The effects of the missense variants on respective amino acids were analyzed by using PyMol software. Among the 44 participants, hearing loss was moderate for two individuals; 14 exhibited moderately-severe hearing loss while 25 had a severe degree of hearing loss. Hearing loss was reported to have been progressive in four participants and was currently profound in three participants. Variants were unambiguously identified in 17 genes, of which the majority affected SLC26A4. CDH23, MYO15A and OTOF were other significant contributors. Deleterious variants detected in two genes suggest new associations for hearing loss. Molecular characterization of hearing loss in our cohort revealed high genetic heterogeneity with a 75% diagnostic rate. [ABSTRACT FROM AUTHOR]

Purpose: Perceived social support has been shown to positively correlate with health-related quality of life (HR-QoL) in a variety of conditions. This study investigated whether perceived social support is affecting HR-QoL of patients who receive a cochlear implant (CI) for deafness. Methods: Eighty eight adults (56 males, 32 females; mean age: 60 years) with a uni- or bilateral CI for bilateral high-grade hearing loss were administered two questionnaires: a questionnaire for perceived social support (FSU-14) and the Nijmegen Cochlear Implant Questionnaire (NCIQ) for hearing-specific HR-QoL. Administration of the questionnaires occurred at four points in time: before implantation and three, 12 and 24 months after implant activation. Results: The CI patients had quite high levels of perceived social support (mean percentile rank: 71), which remained stable at all four measurement points. Multivariate Analysis showed a significant interaction between perceived social support and HR-QoL indicating that higher perceived social support lead to higher improvement of HR-QoL after cochlear implantation. Conclusion: The CI patients in this study had higher than average levels of perceived social support, which did not change before and after cochlear implantation. Perceived social support and HR-QoL were related such that patients with high levels of perceived social support experienced greater improvement of their HR-QoL after cochlear implantation than patients with low levels of perceived social support. Based on this finding, perceived social support must be considered as an important factor for HR-QoL after cochlear implantation. [ABSTRACT FROM AUTHOR]

The aim of the current study was to examine facial and body posture emotion recognition among deaf and hard-of-hearing (DHH) and hearing young adults. Participants were (N = 126) DHH (n = 48) and hearing (n = 78) college students who completed two emotion recognition tasks in which they were shown photographs of faces and body postures displaying different emotions of both high and low intensities and had to infer the emotion being displayed. Compared to hearing participants, DHH participants performed worse on the body postures emotion task for both high and low intensities. They also performed more poorly on the facial emotion task, but only for low-intensity emotional facial expressions. On both tasks, DHH participants whose primary mode of communication was Signed English performed significantly more poorly than those whose primary mode was American Sign Language (ASL) or spoken English. Moreover, DHH participants who communicated using ASL performed similarly to hearing participants. This suggests that difficulties in affect recognition among DHH individuals occur when processing both facial and body postures that are more subtle and reflective of real-life displays of emotion. Importantly, this also suggests that ASL as a primary form of communication in this population may serve as a protective factor against emotion recognition difficulties, which could, in part, be due to the complex nature of this language and its requirement to perceive meaning through facial and postural expressions with a wide visual lens. [ABSTRACT FROM AUTHOR]

We present a psycholinguistic study investigating lexical effects on simplified Chinese character recognition by deaf readers. Prior research suggests that deaf readers exhibit efficient orthographic processing and decreased reliance on speech-based phonology in word recognition compared to hearing readers. In this large-scale character decision study (25 participants, each evaluating 2500 real characters and 2500 pseudo-characters), we analyzed various factors influencing character recognition accuracy and speed in deaf readers. Deaf participants demonstrated greater accuracy and faster recognition when characters were more frequent, were acquired earlier, had more strokes, displayed higher orthographic complexity, were more imageable in reference, or were less concrete in reference. Comparison with a previous study of hearing readers revealed that the facilitative effect of frequency on character decision accuracy was stronger for deaf readers than hearing readers. The effect of orthographic-phonological regularity differed significantly for the two groups, indicating that deaf readers rely more on orthographic structure and less on phonological information during character recognition. Notably, increased stroke counts (i.e., higher orthographic complexity) hindered hearing readers but facilitated recognition processes in deaf readers, suggesting that deaf readers excel at recognizing characters based on orthographic structure. The database generated from this large-scale character decision study offers a valuable resource for further research and practical applications in deaf education and literacy. [ABSTRACT FROM AUTHOR]

Employing functional magnetic resonance imaging (fMRI) techniques, we conducted a comprehensive analysis of neural responses during sign language, picture, and word processing tasks in a cohort of 35 deaf participants and contrasted these responses with those of 35 hearing counterparts. Our voxel-based analysis unveiled distinct patterns of brain activation during language processing tasks. Deaf individuals exhibited robust bilateral activation in the superior temporal regions during sign language processing, signifying the profound neural adaptations associated with sign comprehension. Similarly, during picture processing, the deaf cohort displayed activation in the right angular, right calcarine, right middle temporal, and left angular gyrus regions, elucidating the neural dynamics engaged in visual processing tasks. Intriguingly, during word processing, the deaf group engaged the right insula and right fusiform gyrus, suggesting compensatory mechanisms at play during linguistic tasks. Notably, the control group failed to manifest additional or distinctive regions in any of the tasks when compared to the deaf cohort, underscoring the unique neural signatures within the deaf population. Multivariate Pattern Analysis (MVPA) of functional connectivity provided a more nuanced perspective on connectivity patterns across tasks. Deaf participants exhibited significant activation in a myriad of brain regions, including bilateral planum temporale (PT), postcentral gyrus, insula, and inferior frontal regions, among others. These findings underscore the intricate neural adaptations in response to auditory deprivation. Seed-based connectivity analysis, utilizing the PT as a seed region, revealed unique connectivity pattern across tasks. These connectivity dynamics provide valuable insights into the neural interplay associated with cross-modal plasticity. [ABSTRACT FROM AUTHOR]

Background: Hearing loss is a common problem worldwide with a global prevalence of 20%. There is no local relevant study from Iraq about the prevalence of hearing loss. Objective: To assess the prevalence of hearing loss among patients attending the otolaryngology clinic, Ramadi city, Iraq. Method: This retrospective study was conducted at the otolaryngology clinic, Ramadi city, Anbar government, Iraq. Patients with hearing loss were enrolled in the current study. Data were gathered from patients record regarding the age, sex, type, side, and severity of hearing loss. Additionally, the number of cases were registered for each month during the study period. Results: Out of 8497, there were 2165 (25.48%) patients with hearing loss. The highest number of cases was registered in April (n = 246, 11.4%). The highest age group affected was 18–60 years (n = 1125) with slight male predominance (51.64%). The main cause of hearing loss was secretary otitis media (n = 762, 35.19/5). The vast majority of cases were with conductive hearing impairment (n = 2051, 94.73%). Unilateral hearing loss (50.76%) was slightly more than bilateral one. Mild hearing loss has outnumbered (n = 1905, 88%) the other severities. Conclusion: The prevalence of hearing loss was 25.48%. Hearing loss could affect any age with slight male predominance. The majority of the cases were with conductive type and mild severity. [ABSTRACT FROM AUTHOR]

Purpose: Processing real-world sounds requires acoustic and higher-order semantic information. We tested the theory that individuals with autism spectrum disorder (ASD) show enhanced processing of acoustic features and impaired processing of semantic information. Methods: We used a change deafness task that required detection of speech and non-speech auditory objects being replaced and a speech-in-noise task using spoken sentences that must be comprehended in the presence of background speech to examine the extent to which 7–15 year old children with ASD (n = 27) rely on acoustic and semantic information, compared to age-matched (n = 27) and IQ-matched (n = 27) groups of typically developing (TD) children. Within a larger group of 7–15 year old TD children (n = 105) we correlated IQ, ASD symptoms, and the use of acoustic and semantic information. Results: Children with ASD performed worse overall at the change deafness task relative to the age-matched TD controls, but they did not differ from IQ-matched controls. All groups utilized acoustic and semantic information similarly and displayed an attentional bias towards changes that involved the human voice. Similarly, for the speech-in-noise task, age-matched–but not IQ-matched–TD controls performed better overall than the ASD group. However, all groups used semantic context to a similar degree. Among TD children, neither IQ nor the presence of ASD symptoms predict the use of acoustic or semantic information. Conclusion: Children with and without ASD used acoustic and semantic information similarly during auditory change deafness and speech-in-noise tasks. [ABSTRACT FROM AUTHOR]

The aim of this case study was to describe differences in English and British Sign Language (BSL) communication caused by a left temporal tumour resulting in discordant presentation of symptoms, intraoperative stimulation mapping during awake craniotomy and post-operative language abilities. We report the first case of a hearing child of deaf adults, who acquired BSL with English as a second language. The patient presented with English word finding difficulty, phonemic paraphasias, and reading and writing challenges, with BSL preserved. Intraoperatively, object naming and semantic fluency tasks were performed in English and BSL, revealing differential language maps for each modality. Post-operative assessment confirmed mild dysphasia for English with BSL preserved. These findings suggest that in hearing people who acquire a signed language as a first language, topographical organisation may differ to that of a second, spoken, language. [ABSTRACT FROM AUTHOR]

One of the most prevalent sensorineural disorders, autosomal recessive non-syndromic hearing loss (ARNSHL) which can affect all age groups, from the newborn (congenital) to the elderly (presbycusis). Important etiologic, phenotypic, and genotypic factors can cause deafness. So far, the high genetic variability that explains deafness makes molecular diagnosis challenging. In Morocco, the GJB2 gene is the primary cause of non-syndromic hereditary deafness, while the existence of a variant in the LRTOMT gene is the second cause of this condition. After excluding these two frequently occurring GJB2 and LRTOMT variants, whole-exome sequencing was carried out in two Moroccan consanguineous families with hearing loss. As a result, two novel variants in the TMPRSS3 (c.1078G>A, p. Ala 360Thr) and FOXI1 (c.6C>G, p. Ser 2Arg) genes have been discovered in deaf patients and the pathogenic effect has been anticipated by several bioinformatics and molecular modeling systems. For the first time, these variants are identified in the Moroccan population, showing the population heterogeneity and demonstrating the value of the WES in hearing loss diagnosis. [ABSTRACT FROM AUTHOR]

Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease that affects various systems in the body, particularly the brain, nervous system, and muscles. Among these systems, sensorineural hearing loss is a common additional symptom. Methods: A 42-year-old female patient with MELAS who experienced bilateral profound deafness and underwent bilateral sequential cochlear implantation (CIs). Speech recognition and subjective outcomes were evaluated. Results: Following the first CI follow-up, the patient exhibited improved speech recognition ability and decided to undergo the implantation of the second ear just two months after the initial CI surgery. The second CI also demonstrated enhanced speech recognition ability. Subjective outcomes were satisfactory for bilateral CIs. Conclusions: MELAS patients receiving bilateral CIs can attain satisfactory post-CI speech recognition, spatial hearing, and sound qualities. [ABSTRACT FROM AUTHOR]

The effectiveness of education and upbringing of children with hearing loss who are placed in special and mixed groups remains an important issue. The study aims to establish mixed groups consisting of both healthy children and children with hearing loss, and subsequently evaluate and compare their cognitive and mental development across different phases of the experiment, taking into account their level of digital literacy skills. Digital literacy skills are essential for the full development of children in the digital age. Children were tested for digital literacy level, cognitive skills, emotional stability, and relationships with peers using the Battelle Developmental Inventory, as well as Temple, Dorkey, and Amen test. The findings were compared among groups and categories of children. The digital literacy level of children with implants and hearing loss by the end of the study year was slightly lower than in the control group. The use of digital technologies made it possible to improve the speech functions of children with implants and hearing loss by 1.5-2.0 times. Children without hearing loss, who were placed in groups for children with speech disorders, were divided into those who were rejected and those who were accepted. Perhaps, this might result in more severe anxiety among such children. Children from the mixed groups were more tolerant of their peers. The resulting data suggested greater effectiveness of the mixed groups compared to the traditional system of special education programs and upbringing. [ABSTRACT FROM AUTHOR]

Alport syndrome is a genetic kidney disease that causes worsening of kidney function over time, often progressing to kidney failure. Some types of Alport syndrome cause other symptoms and signs, including hearing loss and eye abnormalities. Research now indicates that Alport syndrome (autosomal dominant inheritance) is the most common form. Alport syndrome can have X-linked or a rare form of autosomal recessive inheritance. Traditionally, a kidney biopsy was used to diagnose Alport syndrome, but genetic testing provides a more precise and less invasive means of diagnosis and reveals the underlying pattern of inheritance. At present, there are no specific curative treatments for Alport syndrome however there is a strong international effort in pursuit of future therapies. Currently, angiotensin-converting enzyme inhibitors (ACEi), or an angiotensin receptor blocker (ARB) if a patient cannot tolerate an ACEi, slow down the progression of kidney disease and can delay the onset of kidney failure by years. There are other potential treatments in research that potentially can help delay the onset of kidney issues. Early treatment of patients and identification of their at-risk relatives is a priority. People living with Alport syndrome and their doctors now benefit from an active international research community working on translating further treatments into clinical practice and providing up-to-date clinical guidelines. [ABSTRACT FROM AUTHOR]

Purpose: Our aim was to investigate the course of the hearing capacity of the better-hearing ear in single-sided deafness (SSD) and asymmetric hearing loss (AHL) over time, in a multicenter study. Methods: We included 2086 pure-tone audiograms from 323 patients with SSD and AHL from four hospitals and 156 private practice otorhinolaryngologists. We collected: age, gender, etiology, duration of deafness, treatment with CI, number and monosyllabic speech recognition, numerical rating scale (NRS) of tinnitus intensity, and the tinnitus questionnaire according to Goebel and Hiller. We compared the pure tone audiogram of the better-hearing ear in patients with SSD with age- and gender-controlled hearing thresholds from ISO 7029:2017. Results: First, individuals with SSD showed a significantly higher hearing threshold from 0.125 to 8 kHz in the better-hearing ear compared to the ISO 7029:2017. The duration of deafness of the poorer-hearing ear showed no relationship with the hearing threshold of the better-hearing ear. The hearing threshold was significantly higher in typically bilaterally presenting etiologies (chronic otitis media, otosclerosis, and congenital hearing loss), except for Menière's disease. Second, subjects that developed AHL did so in 5.19 ± 5.91 years and showed significant reduction in monosyllabic word and number recognition. Conclusions: Individuals with SSD show significantly poorer hearing in the better-hearing ear than individuals with NH from the ISO 7029:2017. In clinical practice, we should, therefore, inform our SSD patients that their disease is accompanied by a reduced hearing capacity on the contralateral side, especially in certain etiologies. [ABSTRACT FROM AUTHOR]

Convergence of neural implants with artificial intelligence (AI) presents opportunities for the development of novel neural implants and improvement of existing neurotechnologies. While such technological innovation carries great promise for the restoration of neurological functions, they also raise ethical challenges. Developers of AI-driven neural implants possess valuable knowledge on the possibilities, limitations and challenges raised by these innovations; yet their perspectives are underrepresented in academic literature. This study aims to explore perspectives of developers of neurotechnology to outline ethical implications of three AI-driven neural implants: a cochlear implant, a visual neural implant, and a motor intention decoding speech-brain-computer-interface. We conducted semi-structured focus groups with developers (n = 19) of AI-driven neural implants. Respondents shared ethically relevant considerations about AI-driven neural implants that we clustered into three themes: (1) design aspects; (2) challenges in clinical trials; (3) impact on users and society. Developers considered accuracy and reliability of AI-driven neural implants conditional for users' safety, authenticity, and mental privacy. These needs were magnified by the convergence with AI. Yet, the need for accuracy and reliability may also conflict with potential benefits of AI in terms of efficiency and complex data interpretation. We discuss strategies to mitigate these challenges. [ABSTRACT FROM AUTHOR]

Purpose: The current study was taken up to estimate the prevalence of Single Sided Deafness (SSD) in a tertiary healthcare hospital in Mumbai. Also to determine the acceptance of Contralateral routing of offside signal (CROS) devices by individuals with SSD. Method: A retrospective study design was followed to collect data from September 2020 to September 2022. The data were collected by reviewing the files of the cases diagnosed with Single-Sided Deafness in a tertiary health care hospital in Mumbai. Result: The prevalence of SSD was found to be 24% for the given period. It was observed that 50 out of 4456 took a free trial and 2 bought the device. Conclusion: The poor acceptance and purchase of CROS are attributed to the cost, and missed benefits of true binaural hearing in localization and hearing in noise. These benefits can be achieved by using CI, however, the cost and fear of surgery refrained the participants. Also, participants were observed to learn great use of communication repair strategies. Therefore, it is required to counsel individuals with SSD for CI and provide knowledge about care for the better with regular audiological follow-up. [ABSTRACT FROM AUTHOR]

Graduate Records Examinations (GRE) remain an important criterion for admission to the graduate program. This study explored the predictive role of the GRE for college success among deaf students because most deaf and hard-of-hearing students experience lifelong difficulties in English language and literacy because of their different language acquisition processes. Additionally, the study examined the students' undergraduate grade point average (UGPA), first-semester grade point average (FSGPA), and graduating graduate grade point average (GGPA) to understand D/HH students' performance in a graduate program. Additionally, the study examined the use of the Wechsler Adult Intelligence Scale (WAIS) as a substitute for the GRE criterion for graduate admission. The findings' discussions offer suggestions for using GRE scores in admitting D/HH students to graduate academic programs across the United States. [ABSTRACT FROM AUTHOR]

Deafness, as a profound manifestation of sensory deprivation, prompts a cascade of intricate cerebral adaptations. In this study, involving 35 deaf individuals and 35 hearing controls, we utilized resting-state functional magnetic resonance imaging (rs-fMRI) to delve into the depths of functional connectivity nuances distinguishing deaf individuals from their hearing counterparts. Leading our analytical approach was the application of multi-voxel pattern analysis (fc-MVPA). This advanced method provided a refined perspective, revealing amplified neural connectivity within the deaf population. Notably, regions such as the left postcentral somatosensory association cortex, the anterior and posterior corridors of the left superior temporal gyrus (STG), and the left mid-temporal lobe were identified as hotspots of heightened connectivity. Further, fc-MVPA shed light on intricate interaction effects, which became more pronounced when examining variables such as the duration of auditory deprivation and the extent of sign language exposure. These interactions were particularly evident in the premotor and left frontal mid-orbital regions. Complementing this, seed-based connectivity assessments illuminated pronounced coupling dynamics within the left STG spectrum. Concurrently, local correlation (LCOR) value analysis in the deaf group revealed significant shifts in the right superior STG and bilateral precuneus. In addition, amplitude of low-frequency fluctuation (ALFF) evaluations indicated modulations in the bilateral mid cingulum and left superior mid frontal gyrus. This comprehensive, fc-MVPA-driven exploration uncovers the multifaceted functional adaptations resulting from deafness, highlighting the profound plasticity of the human brain and its potential implications for targeted rehabilitative strategies. [ABSTRACT FROM AUTHOR]

Background: Maternally inherited non-syndromic hearing loss is linked with mitochondrial DNA mutations. Aim: This investigation demonstrates the features of a Chinese pedigree suffering from maternally inherited non-syndromic hearing loss. Methods: Biochemical characterizations included the measurements ofprotein synthesis levels, membrane potential, and the synthesis of reactive oxygen species (ROS) and adenosine triphosphate (ATP) using cybrid cell lines derived from an affected matrilineal subject and control subject. Results: Non-congenital early or late-onset/development hearing impairment has been observed in 4 of 9 in a family (matrilineal), with different degrees of hearing impairment, ranging from normal to severe. A pedigree's whole mitochondrial genome sequence analysis revealed the homoplasmic m.14502 T > C (I58V) mutation at ND6's isoleucine location-58, and specific mitocchondrial DNA polymorphisms set haplogroups M10 were highly conserved. In vitro models indicated that m.14502 T > C mutation-derived respiratory deficiency decreases ND6 protein synthesis, mitochondrial membrane potential, and ATP synthesis. These mitochondrial dysregulations enhance the generation of ROS in the mutant cells. Identifying nuclear modifiers is essential for elucidating hearing loss's pathogenesis and furnishing novel therapeutic interventions. Conclusions: The m.14502 T > C mutation should be considered an inherited risk factor that can help diagnose. The data of this investigation help counsel families of individuals with hearing loss. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the effect of electrical auditory brainstem response (EABR) on the integrity evaluation of auditory pathway and the prediction of postoperative effect of cochlear implantation in patients with different etiology of hearing loss. Methods: A total of 580 patients with neuropathic deafness who underwent cochlear implantation surgery from August 2011 to December 2020 were selected for EABR test. The preoperative EABR waveform was analyzed, and parameters such as V wave amplitude, threshold, latency and interval of each wave, and slope of V wave I/O curve were measured. Neural response telemetry (NRT) test was performed during MAP 1 month after operation, and C and T values of the machine were recorded. Results: The total EABR extraction rate was 98.45% among 580 patients, including 100% for the normal structure group and enlarged vestibular aqueduct group (LVAS), 92.44% for other malformed group. The average threshold of V wave in patients with normal cochlear structure was significantly better than the malformation groups (p < 0.05). The total extraction rate of NRT was 78.62%, including 99.72% in the group with normal structure, 95.65% in the LVAS group, 1.85–88.24% in the group with other malformations, and 0% in the cochlear ossification group. The correlation analysis showed a statistically significant correlation between the average preoperative EABR threshold and the C value of NRT. Conclusions: Preoperative EABR could evaluate the integrity of auditory conduction pathway of patients with cochlear implantation and predict the postoperative hearing rehabilitation effect. [ABSTRACT FROM AUTHOR]

Purpose: Programming a cochlear implant (fitting) is an essential part of a user's post-implantation journey, defining how sound will be translated into electrical stimulation and aiming to provide optimal speech perception outcomes. Currently, there are no established, evidence-based guidelines for fitting cochlear implant users, leading to a high degree of variability in fitting practices, users' parameters, and probably outcomes. In this study a data-driven approach is used to retrospectively investigate the relation between cochlear implant fitting parameters and speech perception outcomes in post-lingually deafened adults. Methods: 298 data points corresponding to fitting parameters and speech audiometry test results for the same number of adult, post-lingually deafened, experienced CI users were analyzed. Correlation analysis was performed, after which parameters from the top-scoring and bottom-scoring tertiles were compared via the Mann–Whitney–Wilcoxon u test. Results: Weak correlations between dynamic range and speech audiometry outcomes were identified, having p values lower than (albeit close to) 0.05. A significant (p < 0.05) difference in electrical dynamic range (the difference between the minimum and maximum amount of current which may be delivered by each electrode) was found, with top-scoring subjects having on average a wider dynamic range. Conclusion: The association between dynamic range and speech perception outcomes shown in this retrospective study highlights the need for deeper investigation into evidence-driven fitting. It might be a first step in the direction of evidence-based fitting, minimizing variability in outcomes for cochlear implant users and helping mitigate the issue of unexplained low performance. [ABSTRACT FROM AUTHOR]

Purpose: This article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary approach. Methods: A narrative review of English literature published before January 2023 was conducted using PubMed, Medline, and Scopus databases. The different causes of inherited DSI are discussed from a multidisciplinary perspective. Results: There are a wide range of dual sensory impairment (DSI), commonly referred to as blindness and deafness. While Usher syndrome is the most frequent genetic cause, other genetic syndromes such as Alport syndrome or Stickler syndrome can also lead to DSI. Various retinal phenotypes, including pigmentary retinopathy as seen in Usher syndrome, vitreoretinopathy as in Stickler syndrome, and macular dystrophy as in Alport syndrome, along with type of hearing loss (sensorineural or conductive) and additional systemic symptoms can aid in diagnostic suspicion. A thorough ophthalmologic and otorhinolaryngologic examination can help guide diagnosis, which can then be confirmed with genetic studies, crucial for determining prognosis. Effective hearing rehabilitation measures, such as hearing implants, and visual rehabilitation measures, such as low vision optical devices, are crucial for maintaining social interaction and proper development in these patients. Conclusions: While Usher syndrome is the primary cause of inherited dual sensory impairment (DSI), other genetic syndromes can also lead to this condition. A proper diagnostic approach based on retinal phenotypes and types of hearing loss can aid in ruling out alternative causes. Multidisciplinary approaches can assist in reaching a definitive diagnosis, which has significant prognostic implications. [ABSTRACT FROM AUTHOR]

The Cochlear™ Osia® System is a hearing system indicated for patients with conductive and mixed hearing loss or unilateral deafness. Given its recent introduction, this is one of the first cases in the literature of implant dehiscence with treatment using local flaps with excellent aesthetic and functional outcomes. [ABSTRACT FROM AUTHOR]

Myosin VI is the only molecular motor that moves towards the minus end along actin filaments. Numerous cellular processes require myosin VI and tight regulations of the motor's activity. Defects in myosin VI activity are known to cause genetic diseases such as deafness and cardiomyopathy. However, the molecular mechanisms underlying the activity regulation of myosin VI remain elusive. Here, we determined the high-resolution cryo-electron microscopic structure of myosin VI in its autoinhibited state. Our structure reveals that autoinhibited myosin VI adopts a compact, monomeric conformation via extensive interactions between the head and tail domains, orchestrated by an elongated single-α-helix region resembling a "spine". This autoinhibited structure effectively blocks cargo binding sites and represses the motor's ATPase activity. Certain cargo adaptors such as GIPC can release multiple inhibitory interactions and promote motor activity, pointing to a cargo-mediated activation of the processive motor. Moreover, our structural findings allow rationalization of disease-associated mutations in myosin VI. Beyond the activity regulation mechanisms of myosin VI, our study also sheds lights on how activities of other myosin motors such as myosin VII and X might be regulated. This study reveals the high-resolution cryo-EM structure of autoinhibited myosin VI, offering insights into cargo-mediated activation of this unique myosin motor and advancing our understanding of motor activity control in the myosin superfamily. [ABSTRACT FROM AUTHOR]

SARS COV 2 infection affects primarily the respiratory system and various organs in humans is responsible for higher mortality secondary to cytokine storm during the COVID-19 pandemic. It affects the internal auditory system is responsible for Sensory neural hearing loss in adults as well as children born to COVID-19 infected mothers. This study was aimed to detect the pattern of hearing loss in COVID-19 infected adults and pattern of hearing loss in children born to gestational COVID-19 infected mothers. Fifty asymptomatic RT-PCR COVID-19 infected adults and age, sex matched healthy controls were evaluated for audiological profile using Pure Tone Audiometry (PTA). Children born to COVID-19 infected mothers were tested using Transient product otoacoustic emissions and click-evoked auditory brainstem responses (ABRs) compared with children born to non-COVID mothers. PTA auditory profile of COVID-19 infected adults on day 7 had 30% (16 out of 50) significant high frequency sensory neural hearing impairment for 4000 Hz (p value 0.003), 6000 Hz (p value 0.001), 8000 Hz (p value 0.001). Repeat PTA testing on day 30 showed normal hearing. Whereas in children, 40% (n = 20) born to COVID-19 infected mothers had OAE as "Refer". BERA (ABRs) testing of that OAE "Refer" children revealed 30% (n = 6) hearing impairment. COVID-19 infection cause transient type of high frequency sensory neural hearing loss in adults. Whereas in children born to COVID-19 infected mothers there is risk of developing permanent, progressive or long-standing transient type of sensory neural hearing loss. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to compare the outcomes of different mapping procedures based on anatomic or default frequency distribution in postlingual deafness adults who underwent cochlear implantation (CI). Methods: Forty-eight adults with postlingual deafness who underwent CI (MED-EL) from January 2021 to May 2022 in our hospital were prospectively recruited. The participants were randomly assigned to two groups (the anatomic group and the default group). Postoperative computerized tomography (CT) scans were evaluated with Otoplan® to determine the angular insertion depth (AID) and the specific locations of the intracochlear electrodes. Anatomic maps were imported into MAESTRO 9.0 software (MED-EL) for anatomy-based fitting for anatomic group, while default mapping program was set up for the default group. Hearing thresholds, Speech Recognition Scores (SRS), and subjects' auditory and musical abilities were evaluated 1 year after using the CI. Differences were determined in two groups using Stata statistical software, with significance defined as p < 0.05. Results: SRS under noisy conditions was significantly greater for anatomic group than the default group (p = 0.02). Under quiet conditions, however, mean hearing thresholds (0.5, 1, 2, and 4 kHz) and SRS did not differ significantly between the two groups (p = 0.07). Modified questionnaires showed that auditory (p = 0.02) and musical (p = 0.01) quality were significantly better following the anatomic mapping than the default procedure. Conclusion: CI program based on the anatomic distribution may bring better SRS under noise conditions as well as better auditory and musical qualities than based on the default frequency distribution. [ABSTRACT FROM AUTHOR]

Background: The relationship between the hearing phenotype and the SLC26A4 mutation in enlarged vestibular aqueduct cases has not been fully elucidated. Objectives: To detect SLC26A4 mutation in a group of cases with enlarged vestibular aqueduct who received cochlear implantation and to analyze the correlation between the SLC26A4 genotype and the progression of deafness. Materials and methods: Twenty-nine enlarged vestibular aqueduct patients were selected. Using the Sanger sequence to analyze SLC26A4 gene mutations. The 29 cases were divided into group A (carrying the c.919-2A > G mutation) and group B (not carrying the c.919-2A > G mutation). The difference in the duration of deafness was analyzed between the two groups. Results: The detection rate of the c.1174A > T mutation in the postlingual deafness group was 37.5%, higher than that in the prelingual deafness group (0%). The difference in the duration of deafness between groups A and B was not statistically significant by the Mann–Whitney U test (p > 0.05). Conclusions: The correlation between the SLC26A4 genotype and the duration of deafness in cases with enlarged vestibular aqueduct is not yet clear. However, the c.1174A > T mutation may be linked to delayed hearing loss and the progression of deafness may be relatively slow in some cases of c.919-2A > G mutation. [ABSTRACT FROM AUTHOR]

In the field of audiology, achieving accurate discrimination of auditory impairments remains a formidable challenge. Conditions such as deafness and tinnitus exert a substantial impact on patients' overall quality of life, emphasizing the urgent need for precise and efficient classification methods. This study introduces an innovative approach, utilizing Multi-View Brain Network data acquired from three distinct cohorts: 51 deaf patients, 54 with tinnitus, and 42 normal controls. Electroencephalogram (EEG) recording data were meticulously collected, focusing on 70 electrodes attached to an end-to-end key with 10 regions of interest (ROI). This data is synergistically integrated with machine learning algorithms. To tackle the inherently high-dimensional nature of brain connectivity data, principal component analysis (PCA) is employed for feature reduction, enhancing interpretability. The proposed approach undergoes evaluation using ensemble learning techniques, including Random Forest, Extra Trees, Gradient Boosting, and CatBoost. The performance of the proposed models is scrutinized across a comprehensive set of metrics, encompassing cross-validation accuracy (CVA), precision, recall, F1-score, Kappa, and Matthews correlation coefficient (MCC). The proposed models demonstrate statistical significance and effectively diagnose auditory disorders, contributing to early detection and personalized treatment, thereby enhancing patient outcomes and quality of life. Notably, they exhibit reliability and robustness, characterized by high Kappa and MCC values. This research represents a significant advancement in the intersection of audiology, neuroimaging, and machine learning, with transformative implications for clinical practice and care. [ABSTRACT FROM AUTHOR]

Deafness is a common sensory disorder. In China, approximately 70% of hereditary deafness originates from four common deafness-causing genes: GJB2, SLC26A4, GJB3, and MT-RNR1. A single-tube rapid detection method based on 2D-PCR technology was established for nine mutation sites in the aforementioned genes, and Sanger sequencing was used to verify its reliability and accuracy. The frequency of hotspot mutations in deafness genes was analysed in 116 deaf students. 2D-PCR identified 27 genotypes of nine loci according to the melting curve of the FAM, HEX, and Alexa568 fluorescence channels. Of the 116 deaf patients, 12.9% (15/116) carried SLC26A4 mutations, including c.919-2A > G and c.2168A > G (allele frequencies, 7.3% and 2.2%, respectively). The positivity rate (29.3%; 34/116) was highest for GJB2 (allele frequency, 15.9% for c.235delC, 6.0% for c.299_300delAT, and 2.6% for c.176-191del16). Sanger sequencing confirmed the consistency of results between the detection methods based on 2D-PCR and DNA sequencing. Common pathogenic mutations in patients with non-syndromic deafness in Changzhou were concentrated in GJB2 (c.235delC, c.299_300delAT, and c.176-191del16) and SLC26A4 (c.919-2A > G and c.2168 A > G). 2D-PCR is an effective method for accurately and rapidly identifying deafness-related genotypes using a single-tube reaction, and is superior to DNA sequencing, which has a high cost and long cycle. [ABSTRACT FROM AUTHOR]

This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control. A total of 10,183 neonates were recruited between January 2018 and December 2022 at Yuebei People's Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA, and GJB3 by PCR hybridization. Another group used next-generation sequencing (NGS) to detect genetic susceptibility genes in 1907 neonates. In PCR hybridization screening group, 346 (4.18%) of 8276 neonates were found to be carriers of the deafness gene. Among these, 182 (2.2%) had GJB2 variants, 114 (1.38%) had SLC26A4 variants, 35 (0.42%) had mtDNA variants, and 15 (0.18%) had GJB3 variants. In NGS Screening Group, 195 out of 1907 neonates were found to be carriers of the deafness gene, with a positive rate of 10.22%. Among these, 137 (7.18%) had GJB2 variants, 41 (2.15%) had SLC26A4 variants, 11 (0.58%) had mtDNA variants, and 6 (0.31%) had GJB3 variants. The prevalence of deafness gene variants was high in Northern Guangdong Province. The most common gene for deafness was GJB2, followed by SLC26A4 and mtDNA. GJB3 variants are rare. Compared with PCR hybridization method, NGS technology can expand the screening scope and greatly improve the detection rate of deafness genes. The c.109G>A of GJB2 was found to occur at a high frequency, which should be considered. Therefore, it is important to conduct neonatal deafness gene screening to prevent and control hereditary deafness. [ABSTRACT FROM AUTHOR]

Dominant optic atrophy (DOA) is one of the most prevalent forms of hereditary optic neuropathies and is mainly caused by heterozygous variants in OPA1, encoding a mitochondrial dynamin-related large GTPase. The clinical spectrum of DOA has been extended to a wide variety of syndromic presentations, called DOAplus, including deafness as the main secondary symptom associated to vision impairment. To date, the pathophysiological mechanisms underlying the deafness in DOA remain unknown. To gain insights into the process leading to hearing impairment, we have analyzed the Opa1delTTAG mouse model that recapitulates the DOAplus syndrome through complementary approaches combining morpho-physiology, biochemistry, and cellular and molecular biology. We found that Opa1delTTAG mutation leads an adult-onset progressive auditory neuropathy in mice, as attested by the auditory brainstem response threshold shift over time. However, the mutant mice harbored larger otoacoustic emissions in comparison to wild-type littermates, whereas the endocochlear potential, which is a proxy for the functional state of the stria vascularis, was comparable between both genotypes. Ultrastructural examination of the mutant mice revealed a selective loss of sensory inner hair cells, together with a progressive degeneration of the axons and myelin sheaths of the afferent terminals of the spiral ganglion neurons, supporting an auditory neuropathy spectrum disorder (ANSD). Molecular assessment of cochlea demonstrated a reduction of Opa1 mRNA level by greater than 40%, supporting haploinsufficiency as the disease mechanism. In addition, we evidenced an early increase in Sirtuin 3 level and in Beclin1 activity, and subsequently an age-related mtDNA depletion, increased oxidative stress, mitophagy as well as an impaired autophagic flux. Together, these results support a novel role for OPA1 in the maintenance of inner hair cells and auditory neural structures, addressing new challenges for the exploration and treatment of OPA1-linked ANSD in patients. [ABSTRACT FROM AUTHOR]

Purpose: This study was aimed at examining the pre- and post-cochlear implant (CI) speech recognition and quality of life results of postlingually deaf adult CI users with a duration of deafness (DoD) > 25 years and determining the maximum DoD limit. Methods: We enrolled 54 postlingually deaf CI users and divided them into ages ≤ 60 and > 60 years and DoDs ≤ 25 and > 25 years. All participants were evaluated using multisensory measures (auditory and auditory + visual) and open-set Speech Recognition Test (SRT) before CI and 3 years postoperatively. They were administered with The Hearing Handicap Inventory for the Elderly (HHIE) to determine the effects of hearing impairment on daily life. Results: DoD and open-set SRT for auditory and auditory + visual stimuli showed a strong negative linear relationship (r = − 0.506, p < 0.01). Open-set SRT scores of patients with DoD aged ≤ 25 and > 25 years (p < 0.01) differed significantly. The chronological age and HHIE scores in social and emotional subfactors showed a strong negative linear relationship (r = − 0.519, p < 0.01). Conclusions: The present study showed that the number of years was a major factor determining that postlingual adults with profound hearing loss had hearing loss. The results support CI use as soon as possible in adults to prevent degeneration of the auditory pathways and possible central remodeling. However, auditory rehabilitation outcomes in adults using CI vary widely. Investigating the causes of this variability contributes to audiology. [ABSTRACT FROM AUTHOR]

Accessibility is a concept that refers to providing the required affordance to users with some kind of disability, or even without it, to use a website. Taking into account this goal, we can find two perspectives, those proposed by government laws, such as the section 508 of the Rehabilitation Act or the European Accessibility Act, and those recommendations proposed by consortia like the World Wide Web Consortium, which through the Web Accessibility Initiative proposes the Web Content Accessibility Guidelines. In general, laws or recommendations, define the good practices to make a website and their content accessible. The purpose of this study is to evaluate the effectiveness of the accessibility of websites with deaf users. The evaluation consists of the accomplishment of a set of tasks by deaf users in four websites. The natural hypothesis should be that the use of accessibility guidelines improve the user performance to achieve a task in websites that followed the guidelines. As a result, by observing interactions and listen to the comments of deaf users suggests that the content and the design of the web pages affect the success rate of the tasks. This content is affected more with regard to the level of their second language, in this case Spanish. [ABSTRACT FROM AUTHOR]

Writing often begins during the early years of childhood. Teachers' beliefs about early writing development can influence children's process in learning to write. The purpose of this exploratory study was to examine deaf education teachers' beliefs and practices regarding the process of development of Deaf children's emergent writing. An online Qualtrics survey was completed by 86 elementary deaf education teachers working with Deaf students in K-6th classrooms. Teachers' responses indicated which aspects of writing they valued and used and the frequency they used them when teaching writing to Deaf children. Classroom teachers' and itinerant teachers' responses revealed statistically significant differences on the writing aspects they valued and used. Based on these findings, the researcher offers several suggestions and recommendations aimed at promoting Deaf children's writing in both deaf education classrooms and mainstream programs. [ABSTRACT FROM AUTHOR]

Previous research suggests Deaf signers may have different short-term and working memory processes compared with hearing nonsigners due to prolonged auditory deprivation. The direction and magnitude of these reported differences, however, are variable and dependent on memory modality (e.g., visual, verbal), stimulus type, and research design. These discrepancies have made consensus difficult to reach which, in turn, slows progress in areas such as education, medical decision-making, and cognitive sciences. The present systematic review and meta-analysis included 35 studies (N = 1,701 participants) that examined verbal (n = 15), visuospatial (n = 10), or both verbal and visuospatial (n = 10) serial-memory tasks comparing nonimplanted, Deaf signers to hearing nonsigners across the life span. Multivariate meta-analyses indicated a significant, negative effect of deafness on verbal short-term memory (forward recall), g = −1.33, SE = 0.17, p <.001, 95% CI [−1.68, −0.98], and working memory (backward recall), g = −0.66, SE = 0.11, p <.001, 95% CI [−0.89, −0.45], but no significant effect of deafness on visuospatial short-term memory, g = −0.055, SE = 0.17, p = 0.75, 95% CI [−0.39, 0.28]. Visuospatial working memory was not analyzed due to limited power. Population estimates for verbal and visuospatial short-term memory were moderated by age wherein studies with adults demonstrated a stronger hearing advantage than studies with children/adolescents. Quality estimates indicated most studies were of fair quality, with only 38% of studies involving Deaf authors. Findings are discussed in the context of both Deaf equity and models of serial memory. [ABSTRACT FROM AUTHOR]

Purpose: Although recessive mutations in GJB2 are the common genetic etiology of sensorineural hearing impairment (SNHI), variants in LRTOMT gene were also identified, mostly in Middle East and North African populations. Methods: Using Sanger sequencing we screened the exon 7 of LRTOMT in a cohort of 128 unrelated Mauritanian children with congenital deafness. Results: Only one biallelic missense mutation, predicted as pathogenic (c.179 T > C;p.Leu60Pro) was found at homozygous state in four families. This variant, not reported before, showed a deleterious effect by SIFT (score: 0.01) and a disease-causing effect by Mutation Taster (prob: 1). Exploration of the encoded protein 3D structure revealed a disruption from an organized α helix (in the normal protein structure) into a random conformation. Early fitting of a cochlear implant seemed to improve the audition ability of the mutation carrier. Conclusion: Further screening using a panel of deafness genes may expose other variants underlying hearing impairment in our population. [ABSTRACT FROM AUTHOR]

Purpose: Implantable hearing devices are indicated for candidates who could not benefit from conventional hearing aids. This study aimed at evaluating their effectiveness in rehabilitation of hearing loss. Methods: This study included patients who received bone conduction implants at Tertiary Teaching Hospitals, between December 2018 and November 2020. Data were collected prospectively, and patients were assessed both subjectively using COSI and GHABP questionnaires and objectively using bone conduction and air conduction thresholds, unaided and aided free field speech thresholds. Outcomes of transcutaneous (tBCHD) and percutaneous (pBCHD) bone conduction hearing devices were compared as well as outcomes of unilateral versus bilateral fitting. Postoperative skin complications were recorded and compared. Results: A total of seventy patients were included, thirty-seven of them were implanted with tBCHD and thirty-three with pBCHD. Fifty-five patients were fitted unilaterally compared to 15 bilateral fitting. Preoperative mean of bone conduction (BC) of the overall sample was 23.27 ± 10.91 dB, the Air conduction (AC) mean was 69.27 ± 13.75 dB. There was significant difference between unaided free field speech score (88.51% ± 7.92) and the aided score (96.79 ± 2.38) with P value = 0.00001. The postoperative assessment using GHABP showed a benefit score mean of 70.95 ± 18.79, patient satisfaction score mean of 78.15 ± 18.39. The disability score improved significantly from a mean of 54.08 ± 15.26 to residual score of only 12.50 ± 10.22 with P < 0.00001 postoperatively. There was significant improvement in all parameters of COSI questionnaire following fitting. Comparison of pBCHDs vs tBCHDs showed a non-significant difference regarding FF speech as well as GHABP parameters. Comparison of the post-operative skin complications was in favor of tBCHDs as (86.5%) of the patients had normal skin postoperatively, compared to 45.5% of patients with pBCHDs devices. Bilateral implantation showed significant improvement of FF speech scores, GHABP satisfaction score, as well as COSI score results. Conclusion: Bone conduction hearing devices are effective solution for rehabilitation of hearing loss. Bilateral fitting yields satisfactory outcomes in suitable candidates. Transcutaneous devices carry significantly lower skin complication rates compared to percutaneous devices. [ABSTRACT FROM AUTHOR]

Raising a deaf child can have significant impacts on parents' wellbeing, their relationship with the deaf child, and their ability to parent effectively. Using an online survey, this study explored two questions: First, to examine whether hearing parents treat and perceive their deaf and hearing children differently while controlling for parent characteristics (including resolution of diagnosis), specifically in terms of parenting styles and perceived vulnerability. Second, whether hearing parents' ability to resolve their feelings about their child's hearing loss diagnosis was related to their parenting morale, and whether they perceived their deaf child as vulnerable. A total of 84 parents with a deaf child aged 5–12 years completed the survey, with 32 of those also reported about a second child without hearing loss in the same age range. They were asked to answer questions from the Reaction to Diagnosis Interview, and to complete several questionnaires addressing parenting morale, child vulnerability, and parenting styles. Findings suggest that unresolved feelings of diagnosis were linked to lower parenting morale and greater perception of child vulnerability. Sibling comparisons indicated that parents also reported a higher perceived child vulnerability score for the deaf child compared to the hearing sibling. No sibling differences were found regarding parenting styles. These findings suggest that the experience of having a deaf child can have a negative impact on hearing parents' morale and perception of child vulnerability, particularly when parents remain unresolved about the diagnosis, highlighting the need for targeted supports and further research. Highlights: Experiences receiving their child's diagnosis of hearing loss has long-lasting impacts on parenting outcomes Unresolved parents are more likely to have lower parenting morale and view their deaf child as vulnerable Parents are more likely to view their deaf child as more vulnerable than their hearing sibling Deaf epistemology awareness and positive psychology may have beneficial outcomes for parents of deaf children. [ABSTRACT FROM AUTHOR]

Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS with a novel variant, p.Thr187Ile, in MAP3K7. Thr187 is the main phosphorylation site for TGF-beta-activated kinase 1 encoded by MAP3K7, and this variant may cause significant abnormalities in downstream signaling. [ABSTRACT FROM AUTHOR]

This document discusses the first confirmed case of autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) with a DMNT1 gene mutation in Spain. ADCA-DN is an ultra-rare genetic disease caused by a mutation in the DNMT1 gene. The patient, a 46-year-old woman, presented with gait instability and a history of bilateral sensorineural deafness. The diagnosis was confirmed through genetic testing, and the patient received genetic counseling. The document also provides a brief review of DMNT1-related disorders and emphasizes the importance of accurate identification and genetic counseling for affected patients. [Extracted from the article]

Background: Moyamoya disease (MMD) is a chronic cerebrovascular occlusive disease that can results in a variety of neurological deficits. We describe a very rare presentation of MMD in the form of bilateral sudden sensorineural hearing loss after a second attack of subcortical cerebral haemorrhage. Case presentation: A 44-year-old female presented with bilateral sudden sensorineural hearing loss (SSNHL) secondary to an acute intracerebral haemorrhage in the left temporoparietal region. She had a previous haemorrhagic event in the right temporoparietal region two years ago. The two haemorrhagic events have apparently led to interruption of the auditory pathways bilaterally, resulting in sudden complete deafness. Digital subtraction angiography was done, and it showed bilateral occlusion of the internal carotid arteries, with the abnormal anastomotic vascular network at the base of the brain characteristic for MMD. Conclusions: Subcortical hemorrhage due to MMD is a potential cause of bilateral SSNHL that can be diagnosed with early proper imaging. Bilateral damage of the auditory pathways is the likely cause of cortical deafness in this clinical scenario. [ABSTRACT FROM AUTHOR]

The current review gives a comprehensive overview of the recent development in Chinese medicine (CM) for treating several kinds of acquired nerve deafness and tinnitus, as well as links the traditional principle to well-established pharmacological mechanisms for future research. To date, about 24 herbal species and 40 related ingredients used in CM to treat hearing loss and tinnitus are reported for the treatment of endocochlear potential, endolymph growth, lowering toxic and provocative substance aggregation, inhibiting sensory cell death, and retaining sensory transfer. However, there are a few herbal species that can be used for medicinal purposes. Nevertheless, clinical studies have been hampered by a limited population sample, a deficiency of a suitable control research group, or contradictory results. Enhanced cochlear blood flow, antiinflammatory antioxidant, neuroprotective effects, and anti-apoptotic, as well as multi-target approach on different auditory sections of the inner ear, are all possible benefits of CM medications. There are numerous unknown natural products for aural ailment and tinnitus identified in CM that are expected to be examined in the future utilizing various aural ailment models and processes. [ABSTRACT FROM AUTHOR]

Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial arch, and renal system. Sporadic cases of atypical BOR/BO syndrome have been recently reported; however, evidence on genotype–phenotype correlations and molecular mechanisms of those cases is lacking. We herein identified five SIX1 heterozygous variants (c.307dupC:p.Leu103Profs*51, c.373G>A:p.Glu125Lys, c.386_391del:p.Tyr129_Cys130del, c.397_399del:p.Glu133del, and c.501G>C:p.Gln167His), including three novel variants, through whole-exome sequencing in five unrelated Korean families. All eight affected individuals with SIX1 variants displayed non-syndromic hearing loss (DFNA23) or atypical BO syndrome. The prevalence of major and minor criteria for BOR/BO syndrome was significantly reduced among individuals with SIX1 variants, compared to 15 BOR/BO syndrome families with EYA1 variants. All SIX1 variants interacted with the EYA1 wild-type; their complexes were localized in the nucleus except for the p.Leu103Profs*51 variant. All mutants also showed obvious but varying degrees of reduction in DNA binding affinity, leading to a significant decrease in transcriptional activity. This study presents the first report of SIX1 variants in South Korea, expanding the genotypic and phenotypic spectrum of SIX1 variants, characterized by DFNA23 or atypical BO syndrome, and refines the diverse molecular aspects of SIX1 variants according to the EYA1–SIX1–DNA complex theory. [ABSTRACT FROM AUTHOR]

Hearing loss is the leading sensory deficit, affecting ~ 5% of the population. It exhibits remarkable heterogeneity across 223 genes with 6328 pathogenic missense variants, making deafness-specific expertise a prerequisite for ascribing phenotypic consequences to genetic variants. Deafness-implicated variants are curated in the Deafness Variation Database (DVD) after classification by a genetic hearing loss expert panel and thorough informatics pipeline. However, seventy percent of the 128,167 missense variants in the DVD are "variants of uncertain significance" (VUS) due to insufficient evidence for classification. Here, we use the deep learning protein prediction algorithm, AlphaFold2, to curate structures for all DVD genes. We refine these structures with global optimization and the AMOEBA force field and use DDGun3D to predict folding free energy differences (∆∆GFold) for all DVD missense variants. We find that 5772 VUSs have a large, destabilizing ∆∆GFold that is consistent with pathogenic variants. When also filtered for CADD scores (> 25.7), we determine 3456 VUSs are likely pathogenic at a probability of 99.0%. Of the 224 genes in the DVD, 166 genes (74%) exhibit one or more missense variants predicted to cause a pathogenic change in protein folding stability. The VUSs prioritized here affect 119 patients (~ 3% of cases) sequenced by the OtoSCOPE targeted panel. Approximately half of these patients previously received an inconclusive report, and reclassification of these VUSs as pathogenic provides a new genetic diagnosis for six patients. [ABSTRACT FROM AUTHOR]

Disability is a varied experience resulting from the interaction of multiple factors: health conditions, personal, and environmental factors. People with Disabilities face various forms of discrimination within the healthcare sector, including the lack of accessible and appropriate services; information in accessible formats; coverage of communication needs; and access to information and communication technologies. Another area of hindrance is accessing sexual and reproductive health (SRH) services. This scoping review aims to identify facilitators and barriers related to accessing SRH services and the experiences of people with sensory impairment (PwSI) in them. The review includes 37 articles reporting on facilitators and barriers to SRH services. Findings include less access to SRH and awareness in how to access SRH services, mainly among young people, and less comprehensive knowledge about modern contraceptive methods possibly determined by the lack of adequate and inclusive sexual information. These results support the idea of including accessible SRH materials, training providers on the needs of people with sensory disabilities, removing barriers to sexuality education and health services, to address the disadvantages faced by PwSI and provide them with access to health care which is a basic right. [ABSTRACT FROM AUTHOR]

Purpose: The aims of this study were to compare speech recognition at different postoperative times for both ears in bilaterally implanted patients and to assess the influence of the time of deafness, frequency-to-place mismatch, angular insertion depth (AID) and angular separation between neighbouring electrode contacts on audiometric outcomes. Methods: This study was performed at an academic tertiary referral centre. A total of 19 adult patients (6 men, 13 women), who received sequential bilateral implantation with lateral wall electrode arrays, were analysed in retrospective. Statistical analysis was performed using two-sided t test, Wilcoxon test, median test, and Spearman's correlation. Results: Postlingually deafened patients (deafness after the age of 10) had a significantly better speech perception (WRS65[CI]) than the perilingually deafened subjects (deafness at the age of 1–10 years) (p < 0.001). Comparison of cochlear duct length between peri- and postlingually deafened subjects showed a slightly significantly smaller cochleae in perilingual patients (p = 0.045). No association between frequency-to-place mismatch as well as angular separation and speech perception could be detected. There was even no significant difference between the both ears in the intraindividual comparison, even if insertion parameters differed. Conclusion: The exact electrode position seems to have less influence on the speech comprehension of CI patients than already established parameters as preoperative speech recognition or duration of deafness. [ABSTRACT FROM AUTHOR]

The auditory brainstem implant (ABI) is an auditory neuroprosthesis that provides hearing by electrically stimulating the cochlear nucleus (CN) of the brainstem. Our previous study (McInturff et al., 2022) showed that single-pulse stimulation of the dorsal (D)CN subdivision with low levels of current evokes responses that have early latencies, different than the late response patterns observed from stimulation of the ventral (V)CN. How these differing responses encode more complex stimuli, such as pulse trains and amplitude modulated (AM) pulses, has not been explored. Here, we compare responses to pulse train stimulation of the DCN and VCN, and show that VCN responses, measured in the inferior colliculus (IC), have less adaption, higher synchrony, and higher cross-correlation. However, with high-level DCN stimulation, responses become like those to VCN stimulation, supporting our earlier hypothesis that current spreads from electrodes on the DCN to excite neurons located in the VCN. To AM pulses, stimulation of the VCN elicits responses with larger vector strengths and gain values especially in the high-CF portion of the IC. Additional analysis using neural measures of modulation thresholds indicate that these measures are lowest for VCN. Human ABI users with low modulation thresholds, who score best on comprehension tests, may thus have electrode arrays that stimulate the VCN. Overall, the results show that the VCN has superior response characteristics and suggest that it should be the preferred target for ABI electrode arrays in humans. [ABSTRACT FROM AUTHOR]

Inattentional unawareness potentially occurs in several different sensory domains but is mainly described in visual paradigms ("inattentional blindness"; e.g., Simons & Chabris, 1999, Perception, 28, 1059–1074). Dalton and Fraenkel (2012, Cognition, 124, 367–372) were introducing "inattentional deafness" by showing that participants missed by 70% a voice repeatedly saying "I'm a Gorilla" when focusing on a primary conversation. The present study expanded this finding from the acoustic domain in a multifaceted way: First, we extended the validity perspective by using 10 acoustic samples—specifically, excerpts of popular musical pieces from different music genres. Second, we used as the secondary acoustic signal animal sounds. Those sounds originate from a completely different acoustic domain and are therefore highly distinctive from the primary sound. Participants' task was to count different musical features. Results (N = 37 participants) showed that the frequency of missed animal sounds was higher in participants with higher attentional focus and motivation. Additionally, attentional focus, perceptual load, and feature similarity/saliency were analyzed and did not have an influence on detecting or missing animal sounds. We could demonstrate that for 31.2% of the music plays, people did not recognize highly salient animal voices (regarding the type of acoustic source as well as the frequency spectra) when executing the primary (counting) task. This uncovered, significant effect supports the idea that inattentional deafness is even available when the unattended acoustic stimuli are highly salient. [ABSTRACT FROM AUTHOR]